Canonical Allele Identifier: CA2612633859

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393068-GGATGGCACCCCGCTTCAGGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393072_17393092del , CM000673.2:g.17393072_17393092del	GRCh38
NC_000011.9:g.17414619_17414639del , CM000673.1:g.17414619_17414639del	GRCh37
NC_000011.8:g.17371195_17371215del	NCBI36
NG_008867.1:g.88814_88834del
NG_012446.1:g.571_591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4249_4269del
ENST00000526037.6:n.583_603del
ENST00000528374.2:c.1239_1259del
ENST00000529967.6:n.2987_3007del
ENST00000532220.2:n.3881_3901del
ENST00000642611.2:n.5981_6001del
ENST00000644057.2:n.1224_1244del
ENST00000645004.2:n.2147_2167del
ENST00000682051.1:n.4810_4830del
ENST00000682110.1:n.4863_4883del
ENST00000682140.1:c.*434_*454del	ENSP00000507829.1:n.*434_*454del
ENST00000682185.1:n.5953_5973del
ENST00000682204.1:c.*2786_*2806del	ENSP00000507094.1:n.*2786_*2806del
ENST00000682215.1:n.5230_5250del
ENST00000682288.1:c.*3079_*3099del	ENSP00000507506.1:n.*3079_*3099del
ENST00000682442.1:n.5083_5103del
ENST00000682528.1:n.4940_4960del
ENST00000682673.1:n.4807_4827del
ENST00000682805.1:n.5268_5288del
ENST00000682965.1:c.*1070_*1090del	ENSP00000508229.1:n.*1070_*1090del
ENST00000683093.1:n.5843_5863del
ENST00000683136.1:c.4531_4551del	ENSP00000507768.1:p.Val1511_Ile1517del
ENST00000683153.1:n.4905_4925del
ENST00000683365.1:n.4965_4985del
ENST00000683377.1:n.4759_4779del
ENST00000683456.1:c.*1785_*1805del	ENSP00000508318.1:n.*1785_*1805del
ENST00000683522.1:n.4945_4965del
ENST00000683562.1:c.*2713_*2733del	ENSP00000508265.1:n.*2713_*2733del
ENST00000683693.1:n.6324_6344del
ENST00000683725.1:c.*113_*133del	ENSP00000507496.1:n.*113_*133del
ENST00000684010.1:n.4858_4878del
ENST00000684014.1:n.835_855del
ENST00000684157.1:n.5848_5868del
ENST00000684253.1:n.4766_4786del
ENST00000684288.1:c.*2820_*2840del	ENSP00000507143.1:n.*2820_*2840del
ENST00000684313.1:n.4295_4315del
ENST00000684332.1:n.4936_4956del
ENST00000684371.1:n.4969_4989del
ENST00000684404.1:n.5891_5911del
ENST00000684442.1:n.5087_5107del
ENST00000684555.1:c.*2860_*2880del	ENSP00000507705.1:n.*2860_*2880del
ENST00000684571.1:c.4489_4509del	ENSP00000506935.1:p.Val1497_Ile1503del
ENST00000684593.1:c.*4353_*4373del	ENSP00000507005.1:n.*4353_*4373del
ENST00000684711.1:c.*3044_*3064del	ENSP00000506841.1:n.*3044_*3064del
ENST00000302539.9:c.4651_4671del	ENSP00000303960.4:p.Val1551_Ile1557del
ENST00000389817.8:c.4648_4668del MANE Select	ENSP00000374467.4:p.Val1550_Ile1556del
ENST00000642271.1:c.4645_4665del	ENSP00000493749.1:p.Val1549_Ile1555del
ENST00000642579.1:c.2702_2722del
ENST00000642611.1:n.5866_5886del
ENST00000642902.1:c.4430_4450del
ENST00000643260.1:c.4648_4668del	ENSP00000494450.1:p.Val1550_Ile1556del
ENST00000643562.1:c.*2770_*2790del	ENSP00000496124.1:n.*2770_*2790del
ENST00000643925.1:c.3225_3245del
ENST00000644057.1:n.807_827del
ENST00000644484.1:c.*4034_*4054del	ENSP00000493558.1:n.*4034_*4054del
ENST00000644675.1:c.*2820_*2840del	ENSP00000494567.1:n.*2820_*2840del
ENST00000644757.1:c.*3203-109_*3203-89del	ENSP00000495085.1:n.*3203-109_*3203-89del
ENST00000644772.1:c.4714_4734del	ENSP00000494321.1:p.Val1572_Ile1578del
ENST00000645004.1:n.2341_2361del
ENST00000645076.1:c.3743_3763del
ENST00000645760.1:c.5069_5089del
ENST00000645884.1:c.*1931_*1951del	ENSP00000495516.1:n.*1931_*1951del
ENST00000646003.1:c.*2670_*2690del	ENSP00000495259.1:n.*2670_*2690del
ENST00000646207.1:c.*3485_*3505del	ENSP00000495025.1:n.*3485_*3505del
ENST00000646592.1:c.3954_3974del
ENST00000646902.1:c.4615_4635del	ENSP00000494101.1:p.Val1539_Ile1545del
ENST00000646993.1:c.*3086_*3106del	ENSP00000493720.1:n.*3086_*3106del
ENST00000647015.1:c.4399_4419del	ENSP00000495389.1:p.Val1467_Ile1473del
ENST00000647086.1:c.*4234_*4254del	ENSP00000493677.1:n.*4234_*4254del
ENST00000302539.8:c.4651_4671del	ENSP00000303960.4:p.Val1551_Ile1557del
ENST00000389817.7:c.4648_4668del	ENSP00000374467.3:p.Val1550_Ile1556del
ENST00000525022.1:n.627_647del
ENST00000526037.5:n.408_428del
ENST00000526168.5:c.436_456del
ENST00000531642.5:c.679_699del
NM_000352.4:c.4648_4668del	NP_000343.2:p.Val1550_Ile1556del
NM_001287174.1:c.4651_4671del	NP_001274103.1:p.Val1551_Ile1557del
XM_011520331.1:c.4648_4668del	XP_011518633.1:p.Val1550_Ile1556del
XM_011520333.1:c.3148_3168del	XP_011518635.1:p.Val1050_Ile1056del
XR_930890.1:n.4610_4630del
NM_001351295.1:c.4714_4734del	NP_001338224.1:p.Val1572_Ile1578del
NM_001351296.1:c.4648_4668del	NP_001338225.1:p.Val1550_Ile1556del
NM_001351297.1:c.4645_4665del	NP_001338226.1:p.Val1549_Ile1555del
NR_147094.1:n.4943_4963del
XM_017018197.2:c.4717_4737del	XP_016873686.1:p.Val1573_Ile1579del
XM_017018199.1:c.4714_4734del	XP_016873688.1:p.Val1572_Ile1578del
XM_017018202.1:c.3214_3234del	XP_016873691.1:p.Val1072_Ile1078del
XM_017018204.1:c.2605_2625del	XP_016873693.1:p.Val869_Ile875del
XM_024448668.1:c.3016_3036del	XP_024304436.1:p.Val1006_Ile1012del
XR_001747945.2:n.4685_4705del
XR_001747946.2:n.4616_4636del
XR_002957189.1:n.6399_6419del
NM_000352.6:c.4648_4668del MANE Select	NP_000343.2:p.Val1550_Ile1556del
NM_001287174.2:c.4651_4671del	NP_001274103.1:p.Val1551_Ile1557del
NM_001351295.2:c.4714_4734del	NP_001338224.1:p.Val1572_Ile1578del
NM_001351296.2:c.4648_4668del	NP_001338225.1:p.Val1550_Ile1556del
NM_001351297.2:c.4645_4665del	NP_001338226.1:p.Val1549_Ile1555del
NR_147094.2:n.4943_4963del
NM_001287174.3:c.4651_4671del	NP_001274103.1:p.Val1551_Ile1557del